Noonan syndrome in diverse populations-Reference-Cited by-同舟云学术

Noonan syndrome in diverse populations

Published:2017-07-27 Issue:9 Volume:173 Page:2323-2334
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kruszka Paul¹^ORCID,Porras Antonio R.²,Addissie Yonit A.¹,Moresco Angélica³,Medrano Sofia³,Mok Gary T. K.⁴,Leung Gordon K. C.⁴,Tekendo-Ngongang Cedrik⁵,Uwineza Annette⁶,Thong Meow-Keong⁷,Muthukumarasamy Premala⁷,Honey Engela⁸,Ekure Ekanem N.⁹,Sokunbi Ogochukwu J.⁹,Kalu Nnenna⁹,Jones Kelly L.¹⁰,Kaplan Julie D.¹⁰,Abdul-Rahman Omar A.¹⁰,Vincent Lisa M.¹¹,Love Amber¹¹,Belhassan Khadija¹¹²,Ouldim Karim¹²,El Bouchikhi Ihssane¹²¹³,Shukla Anju¹⁴,Girisha Katta M.¹⁴,Patil Siddaramappa J.¹⁵^ORCID,Sirisena Nirmala D.¹⁶,Dissanayake Vajira H. W.¹⁶,Paththinige C. Sampath¹⁶,Mishra Rupesh¹⁶,Klein-Zighelboim Eva¹⁷,Gallardo Jugo Bertha E.¹⁷,Chávez Pastor Miguel¹⁷,Abarca-Barriga Hugo H.¹⁷^ORCID,Skinner Steven A.¹⁸,Prijoles Eloise J.¹⁸,Badoe Eben¹⁹,Gill Ashleigh D.¹,Shotelersuk Vorasuk²⁰,Smpokou Patroula²¹,Kisling Monisha S.²¹,Ferreira Carlos R.²¹,Mutesa Leon⁶,Megarbane Andre²²,Kline Antonie D.²³,Kimball Amy²³,Okello Emmy²⁴,Lwabi Peter²⁴,Aliku Twalib²⁴,Tenywa Emmanuel²⁴²⁵,Boonchooduang Nonglak²⁶,Tanpaiboon Pranoot²¹,Richieri-Costa Antonio²⁷,Wonkam Ambroise⁵,Chung Brian H. Y.⁴,Stevenson Roger E.¹⁸,Summar Marshall²¹,Mandal Kausik²⁸,Phadke Shubha R.²⁸,Obregon María G.³,Linguraru Marius G.²,Muenke Maximilian¹

Affiliation:

1. Medical Genetics Branch, National Human Genome Research Institute; The National Institutes of Health; Bethesda Maryland

2. Children's National Health System; Sheikh Zayed Institute for Pediatric Surgical Innovation; Washington District of Columbia

3. Servicio de Genética; Hospital de Pediatría Garrahan; Buenos Aires Argentina

4. LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong; Hong Kong Special Administrative Region; Hong Kong China

5. Division of Human Genetics; University of Cape Town; Cape Town South Africa

6. Center of Human Genetics, School of Medicine and Pharmacy, College of Medicine and Pharmacy; University of Rwanda; Kigali Rwanda

7. Faculty of Medicine,Department of Paediatrics; University of Malaya; Kuala Lumpur Malaysia

8. Department of Genetics; University of Pretoria; Pretoria South Africa

9. Department of Paediatrics College of Medicine, University of Lagos; Lagos University Teaching Hospital; Lagos Nigeria

10. Division of Medical Genetics, Department of Pediatrics; University of Mississippi Medical Center; Jackson Mississippi

11. GeneDx; Gaithersburg Maryland

12. Medical Genetics and Oncogenetics Unit; Hassan II University Hospital; Fez Morocco

13. Faculty of Sciences and Techniques,Laboratory of Microbial Biotechnology; University of Sidi Mohammed Ben Abdellah; Fez Morocco

14. Department of Medical Genetics, Kasturba Medical College; Manipal University; Manipal India

15. Mazumdar Shaw Medical Center; Narayana Health City; Bangalore India

16. Faculty of Medicine, Human Genetics Unit; University of Colombo; Colombo Sri Lanka

17. Instituto Nacional de Salud del Niño; Lima Peru

18. Greenwood Genetic Center; Greenwood South Carolina

19. School of Medicine and Dentistry,Department of Child Health; College of Health Sciences; Accra Ghana

20. Faculty of Medicine,Center of Excellence for Medical Genetics, Department of Pediatrics; Chulalongkorn University; Bangkok Thailand

21. Division of Genetics and Metabolism; Children's National Health System; Washington District of Columbia

22. Institut Jérôme Lejeune; Paris France

23. Harvey Institute for Human Genetics; Greater Baltimore Medical Center; Baltimore Maryland

24. Uganda Heart Institute; Kampala Uganda

25. Jinja Regional Referral Hospital; Jinja Uganda

26. Division of Developmental and Behavioral Pediatrics, Department of Pediatrics; Chiangmai University; Chiang Mai Thailand

27. Hospital for the Rehabilitation of Craniofacial Anomalies; São Paulo University; Bauru Brazil

28. Department of Medical Genetics; Sanjay Gandhi Postgraduate Institute of Medical Sciences; Lucknow Uttar Pradesh India

Funder

National Human Genome Research Institute

Government of Abu Dhabi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature;Addissie;American Journal of Medical Genetics Part A,2015

2. The face of Noonan syndrome: Does phenotype predict genotype;Allanson;American Journal of Medical Genetics Part A,2010

3. Noonan syndrome: The changing phenotype;Allanson;American Journal of Medical Genetics,1985

4. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;American Journal of Human Genetics,2013

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